International journal of pediatric otorhinolaryngology, 1993
An unusual case of fibrous hamartoma of infancy is reported. This lesion presented as a gradually... more An unusual case of fibrous hamartoma of infancy is reported. This lesion presented as a gradually enlarging, perspiring left neck mass in an eight month old male. Histologic examination revealed the characteristic features of this entity, with the additional finding of eccrine gland hyperplasia. In a review of the literature, we found no other reports of this unique histologic finding or clinical presentation.
International journal of pediatric otorhinolaryngology, 1990
Juvenile nasopharyngeal angiofibromas (JNA) by definition originate in the nasopharynx. Vascular ... more Juvenile nasopharyngeal angiofibromas (JNA) by definition originate in the nasopharynx. Vascular tumors arising in the nasal cavity can easily be mistaken for JNA, when the correct diagnosis is hemangioma or angiofibromatous polyp. We present a case that illustrates this problem, an 11-year-old boy with a unilateral anterior nasal cavity mass associated with recurrent epistaxis. At surgery, the mass was found to arise from the anterior nasal septum and was removed easily with minimal bleeding. The initial pathologic interpretation was JNA. After extensive review of the specimen, however, the diagnosis of hemangioma was made. Similar tumors have been reported as being JNA that have been simple to remove with minimal blood loss. JNA is associated with more severe blood loss, is more difficult to expose surgically and has a higher risk of recurrence than other nasal tumors. Therefore, JNA needs to be distinguished from anterior nasal cavity masses.
Germ-cell neoplasms, in particular teratomas with immature and mature somatic type tissues, are s... more Germ-cell neoplasms, in particular teratomas with immature and mature somatic type tissues, are some of the most commonly found tumors in children. Approximately 5% of these neoplasms appear in one of several extracranial sites in the head and neck region. This study reports the clinical, pathologic and immunohistochemical findings in six germ-cell neoplasms occurring in the neck and facial areas. A mass was recognized at birth in five children, and the sixth patient was 2 1/2 years old at diagnosis. Four of the six neoplasms contained one or another element of endodermal sinus tumor; two of these had a mixed pattern of endodermal sinus tumor and teratoma. The other two cases were purely teratomas. The serum alpha-fetoprotein was known to be elevated in three children whose tumors had endodermal sinus elements; it returned to normal level in two of the children, but remained high in the one fatal case. Placental alkaline phosphatase and alpha-fetoprotein were demonstrated immunohist...
The objective of the work was to develop an estimate of the risk of death resulting from short fa... more The objective of the work was to develop an estimate of the risk of death resulting from short falls of <1.5 m in vertical height, affecting infants and young children between birth and the fifth birthday. A review of published materials, including 5 book chapters, 2 medical society statements, 7 major literature reviews, 3 public injury databases, and 177 peer-reviewed, published articles indexed in the National Library of Medicine, was performed. The California Epidemiology and Prevention for Injury Control Branch injury database yielded 6 possible fall-related fatalities of young children in a population of 2.5 million young children over a 5-year period. The other databases and the literature review produced no data that would indicate a higher short-fall mortality rate. Most publications that discuss the risk of death resulting from short falls say that such deaths are rare. No deaths resulting from falls have been reliably reported from day care centers. The best current estimate of the mortality rate for short falls affecting infants and young children is <0.48 deaths per 1 million young children per year. Additional research is suggested.
Laryngotracheitis caused by human parainfluenza virus (HPIV) and not complicated by bacterial sup... more Laryngotracheitis caused by human parainfluenza virus (HPIV) and not complicated by bacterial superinfection rarely causes sudden unexpected death in infants and toddlers, especially in the absence of stridor and a barking cough. We therefore describe a 15-month-old white male who died suddenly and unexpectedly with clinical and pathological features of laryngotracheitis caused by culture-proven HPIV-1 infection. Given the presence of mucosal inflammation extending into the vocalis muscle of the larynx without associated significant narrowing of the laryngotracheal airway lumen, we propose his death was a result of a laryngospasm, perhaps mediated by immune responses.
The pediatric pathology literature has given scant attention to expert testimony by physicians in... more The pediatric pathology literature has given scant attention to expert testimony by physicians in medical malpractice actions that involve infants and children. We report the case of a neonate who died after a brief clinical course characterized by intermittent respiratory distress. The prosecting pathologist's erroneous postmortem diagnoses prompted the infant's mother to sue the attending physician for malpractice. During the course of the litigation, it became clear that the pathologist's testimony was evasive and misleading. After deliberating briefly, the jury ruled in favor of the defendant. Had the plaintiff's attorney obtained a 2nd opinion from another pathologist, preferably a pediatric pathologist, the legal proceedings in this case may have been avoided, thereby averting needless distress for both the plaintiff and defendant, aside from the costs involved. We discuss U.S. Supreme Court rulings pertaining to medical expert testimony and identify remedies to increase just outcomes in cases of medical malpractice.
To understand better the relationship among radionuclide renal scan differential function, renal ... more To understand better the relationship among radionuclide renal scan differential function, renal histology and the outcome of pyeloplasty we performed ipsilateral renal biopsies in a series of patients undergoing primary pyeloplasty. A total of 17 consecutive patients with unilateral ureteropelvic junction obstruction underwent renal biopsy at the time of pyeloplasty. Biopsies were examined systematically after sections were stained with hematoxylin and eosin, periodic acid, Schiff, Jones modified silver or Masson trichrome stains, and they were reviewed by 1 pathologist. Biopsy results were correlated with preoperative and postoperative radionuclide renal scan differential functions. Patient age ranged from 1 month to 7 years (mean 19.8 months). Renal biopsy was abnormal in 6 kidneys, of which 5 had a preoperative differential function of less than 33%. None of these kidneys had evidence of postoperative improvement in renal function on followup scans despite a technically successful result. All remaining 11 kidneys had normal biopsies and a preoperative differential function of greater than 44%. We conclude from these data that patients with ureteropelvic junction obstruction with a differential function of less than 35% have a high probability of significant histological changes on biopsy and a low probability of postoperative improvement in differential function.
We report on 226 male patients with cryptorchidism 6 months to 16 years old who underwent open te... more We report on 226 male patients with cryptorchidism 6 months to 16 years old who underwent open testis biopsy at orchiopexy or orchiectomy at Children's Hospital and Health Center from 1986 to 1990. A total of 355 specimens was obtained. Tissues were preserved in Bouin's solution and examined on light microscopy for fertility index measurements. Several biopsies prepared using Bouin's preserved paraffinized tissue and glutaraldehyde preserved semi-thin cut tissue were found to have comparable fertility index measurements. Of 184 patients with unilateral undescended testes 87 also underwent biopsy on the contralateral descended testis. A total of 42 patients had bilateral undescended testes. Age matched comparisons were made between fertility index measurements of the undescended testes and those previously reported of normal testes. Additional case matched comparisons of fertility indexes were made in those children who underwent biopsy of the undescended testis and its descended mate. Statistical analysis was performed using the independent Student t-test. When comparing undescended to descended testes, there was no significant difference in the fertility index of patients 1 year old or younger but fertility index differences were statistically significant in all of the other age groups. Fertility index measurements were significantly decreased from normal expected values in all age groups with unilateral cryptorchidism and in all but the 13 to 18-month-old group with bilateral cryptorchidism. The fertility index in the descended testis was similar to previously reported normal testis measurements in boys between 13 months and 6 years old. Our data suggest that potential fertility in the cryptorchid testis may be significantly impaired compared to normal testicular fertility regardless of patient age at the time of discovery of the undescended testis. The fertility index of the descended mates of unilateral undescended testes may also be somewhat impaired in certain age groups. Orchiopexy in the first year of life may be indicate to preserve available fertility potential.
We report the karyotype analysis of a congenital mesoblastic nephroma (CMN), a usually benign ren... more We report the karyotype analysis of a congenital mesoblastic nephroma (CMN), a usually benign renal tumor occurring most commonly during early infancy. The tumor was composed of interlacing bundles of spindle-shaped cells and it displayed both the classic and cellular histologic patterns. Immunoperoxidase studies showed reactivity for vimentin and actin. The tumor cell karyotype included additional chromosomes 11 and an altered chromosome 12. Trisomy or tetrasomy of chromosome 11 is present in five of six reported cases and may represent a frequent alteration in the karyotype of the CMN. Furthermore, breakpoints in the q13-15 region of chromosome 12 are commonly seen in leiomyomas, which are histologically similar to the CMN. Thus, the karyotype described here illustrates another similarity between the two tumor types.
Irresponsible testimony by medical experts is a growing problem exemplified by three particularly... more Irresponsible testimony by medical experts is a growing problem exemplified by three particularly egregious cases reported herein. The types of irresponsible testimony include the witness's absence of proper qualifications, use of unique theories of causation, use of unique or very unusual interpretations of medical findings, alleging nonexistent medical findings, flagrant misquoting of medical journals or widely used texts, making false
Cytogenetic study of a mesenchymal hamartoma of the liver detected a balanced translocation betwe... more Cytogenetic study of a mesenchymal hamartoma of the liver detected a balanced translocation between chromosomes 11 and 19 in a 6-month-old male whose constitutional karyotype was normal. The chromosome 19 breakpoint, 19q13.4, appears to be identical to one of the breakpoints identified in the only other mesenchymal hamartoma studied with cytogenetic methods.
The American Journal of Forensic Medicine and Pathology, 2003
Upper respiratory infection and pulmonary inflammation are common in sudden infant death syndrome... more Upper respiratory infection and pulmonary inflammation are common in sudden infant death syndrome, but their role in the cause of death remains controversial. Controlled studies comparing clinical upper respiratory infection and inflammation in sudden infant death syndrome with sudden infant deaths caused by accidents and inflicted injuries (controls) are unavailable. Our aim was to compare respiratory inflammation and upper respiratory infection within 48 hours of death and postmortem culture results in these two groups. A retrospective analysis of upper respiratory infection and pathologic variables in the trachea and lung of 155 infants dying of sudden infant death syndrome and 33 control infants was undertaken. Upper respiratory infection was present in 39% of sudden infant death syndrome cases and 40% of control cases. Upper respiratory infection was more likely to have occurred in association with more severe lymphocytic interstitial pneumonitis when sudden infant death syndrome cases and control cases were combined ( P=.04). Proximal and distal tracheal lymphocytic infiltration was more severe in control cases than in sudden infant death syndrome cases ( P=.01 and.01, respectively). Lymphocytic infiltrations of the bronchi, bronchioles, and pulmonary interstitium were similar between groups. Bronchial associated lymphoid tissue was more prominent in control cases ( P=.04). Cultures were positive in 80% of sudden infant death syndrome cases, 78% of which were polymicrobial. Among control cases, 89% were positive, with 94% being polymicrobial. This study confirms that microscopic inflammatory infiltrates in sudden infant death syndrome are not lethal.
Sudden unexplained death in childhood (SUDC), while rare, accounts for an important fraction of u... more Sudden unexplained death in childhood (SUDC), while rare, accounts for an important fraction of unexpected deaths in children >1 year of age. Previously we reported an association between febrile seizures, hippocampal maldevelopment, and sudden, unexpected deaths in young children (1-6 years), termed "hippocampal maldevelopment associated with sudden death (HMASD)." Here, we characterize in greater detail the hippocampal pathology in a large cohort of cases (n = 42) of this entity, and attempt to define possible new entities responsible for sudden, unexplained death in young children without HMASD/febrile seizure phenotypes. We performed comparative analysis on cases, which we classified in a cohort of 89 sudden and unexpected deaths as HMASD, explained deaths, SUDC with febrile seizure phenotype (SUDC-FS) but without hippocampal pathology, and SUDC (without hippocampal pathology or febrile seizure phenotype). The frequency of each subgroup was: HMASD 48 % (40/83); SUDC 27 % (22/83); SUDC-FS 18 % (15/83); explained 7 % (6/83). HMASD was characterized clinically by sudden, sleep-related death, term birth, and discovery in the prone position. Key morphologic features of HMASD were focal granule cell bilamination of the dentate gyrus with or without asymmetry and/or malrotation of the hippocampus, associated with significantly increased frequencies of 11 other developmental abnormalities. We identified no other distinct phenotype in the unexplained categories, except for an association of febrile seizures without hippocampal maldevelopment. HMASD is a distinct clinicopathologic entity characterized by a likely developmental failure of neuronal migration in the dentate gyrus. Future research is needed to determine the causal role of HMASD in sudden death in early childhood.
International journal of pediatric otorhinolaryngology, 1993
An unusual case of fibrous hamartoma of infancy is reported. This lesion presented as a gradually... more An unusual case of fibrous hamartoma of infancy is reported. This lesion presented as a gradually enlarging, perspiring left neck mass in an eight month old male. Histologic examination revealed the characteristic features of this entity, with the additional finding of eccrine gland hyperplasia. In a review of the literature, we found no other reports of this unique histologic finding or clinical presentation.
International journal of pediatric otorhinolaryngology, 1990
Juvenile nasopharyngeal angiofibromas (JNA) by definition originate in the nasopharynx. Vascular ... more Juvenile nasopharyngeal angiofibromas (JNA) by definition originate in the nasopharynx. Vascular tumors arising in the nasal cavity can easily be mistaken for JNA, when the correct diagnosis is hemangioma or angiofibromatous polyp. We present a case that illustrates this problem, an 11-year-old boy with a unilateral anterior nasal cavity mass associated with recurrent epistaxis. At surgery, the mass was found to arise from the anterior nasal septum and was removed easily with minimal bleeding. The initial pathologic interpretation was JNA. After extensive review of the specimen, however, the diagnosis of hemangioma was made. Similar tumors have been reported as being JNA that have been simple to remove with minimal blood loss. JNA is associated with more severe blood loss, is more difficult to expose surgically and has a higher risk of recurrence than other nasal tumors. Therefore, JNA needs to be distinguished from anterior nasal cavity masses.
Germ-cell neoplasms, in particular teratomas with immature and mature somatic type tissues, are s... more Germ-cell neoplasms, in particular teratomas with immature and mature somatic type tissues, are some of the most commonly found tumors in children. Approximately 5% of these neoplasms appear in one of several extracranial sites in the head and neck region. This study reports the clinical, pathologic and immunohistochemical findings in six germ-cell neoplasms occurring in the neck and facial areas. A mass was recognized at birth in five children, and the sixth patient was 2 1/2 years old at diagnosis. Four of the six neoplasms contained one or another element of endodermal sinus tumor; two of these had a mixed pattern of endodermal sinus tumor and teratoma. The other two cases were purely teratomas. The serum alpha-fetoprotein was known to be elevated in three children whose tumors had endodermal sinus elements; it returned to normal level in two of the children, but remained high in the one fatal case. Placental alkaline phosphatase and alpha-fetoprotein were demonstrated immunohist...
The objective of the work was to develop an estimate of the risk of death resulting from short fa... more The objective of the work was to develop an estimate of the risk of death resulting from short falls of <1.5 m in vertical height, affecting infants and young children between birth and the fifth birthday. A review of published materials, including 5 book chapters, 2 medical society statements, 7 major literature reviews, 3 public injury databases, and 177 peer-reviewed, published articles indexed in the National Library of Medicine, was performed. The California Epidemiology and Prevention for Injury Control Branch injury database yielded 6 possible fall-related fatalities of young children in a population of 2.5 million young children over a 5-year period. The other databases and the literature review produced no data that would indicate a higher short-fall mortality rate. Most publications that discuss the risk of death resulting from short falls say that such deaths are rare. No deaths resulting from falls have been reliably reported from day care centers. The best current estimate of the mortality rate for short falls affecting infants and young children is <0.48 deaths per 1 million young children per year. Additional research is suggested.
Laryngotracheitis caused by human parainfluenza virus (HPIV) and not complicated by bacterial sup... more Laryngotracheitis caused by human parainfluenza virus (HPIV) and not complicated by bacterial superinfection rarely causes sudden unexpected death in infants and toddlers, especially in the absence of stridor and a barking cough. We therefore describe a 15-month-old white male who died suddenly and unexpectedly with clinical and pathological features of laryngotracheitis caused by culture-proven HPIV-1 infection. Given the presence of mucosal inflammation extending into the vocalis muscle of the larynx without associated significant narrowing of the laryngotracheal airway lumen, we propose his death was a result of a laryngospasm, perhaps mediated by immune responses.
The pediatric pathology literature has given scant attention to expert testimony by physicians in... more The pediatric pathology literature has given scant attention to expert testimony by physicians in medical malpractice actions that involve infants and children. We report the case of a neonate who died after a brief clinical course characterized by intermittent respiratory distress. The prosecting pathologist's erroneous postmortem diagnoses prompted the infant's mother to sue the attending physician for malpractice. During the course of the litigation, it became clear that the pathologist's testimony was evasive and misleading. After deliberating briefly, the jury ruled in favor of the defendant. Had the plaintiff's attorney obtained a 2nd opinion from another pathologist, preferably a pediatric pathologist, the legal proceedings in this case may have been avoided, thereby averting needless distress for both the plaintiff and defendant, aside from the costs involved. We discuss U.S. Supreme Court rulings pertaining to medical expert testimony and identify remedies to increase just outcomes in cases of medical malpractice.
To understand better the relationship among radionuclide renal scan differential function, renal ... more To understand better the relationship among radionuclide renal scan differential function, renal histology and the outcome of pyeloplasty we performed ipsilateral renal biopsies in a series of patients undergoing primary pyeloplasty. A total of 17 consecutive patients with unilateral ureteropelvic junction obstruction underwent renal biopsy at the time of pyeloplasty. Biopsies were examined systematically after sections were stained with hematoxylin and eosin, periodic acid, Schiff, Jones modified silver or Masson trichrome stains, and they were reviewed by 1 pathologist. Biopsy results were correlated with preoperative and postoperative radionuclide renal scan differential functions. Patient age ranged from 1 month to 7 years (mean 19.8 months). Renal biopsy was abnormal in 6 kidneys, of which 5 had a preoperative differential function of less than 33%. None of these kidneys had evidence of postoperative improvement in renal function on followup scans despite a technically successful result. All remaining 11 kidneys had normal biopsies and a preoperative differential function of greater than 44%. We conclude from these data that patients with ureteropelvic junction obstruction with a differential function of less than 35% have a high probability of significant histological changes on biopsy and a low probability of postoperative improvement in differential function.
We report on 226 male patients with cryptorchidism 6 months to 16 years old who underwent open te... more We report on 226 male patients with cryptorchidism 6 months to 16 years old who underwent open testis biopsy at orchiopexy or orchiectomy at Children's Hospital and Health Center from 1986 to 1990. A total of 355 specimens was obtained. Tissues were preserved in Bouin's solution and examined on light microscopy for fertility index measurements. Several biopsies prepared using Bouin's preserved paraffinized tissue and glutaraldehyde preserved semi-thin cut tissue were found to have comparable fertility index measurements. Of 184 patients with unilateral undescended testes 87 also underwent biopsy on the contralateral descended testis. A total of 42 patients had bilateral undescended testes. Age matched comparisons were made between fertility index measurements of the undescended testes and those previously reported of normal testes. Additional case matched comparisons of fertility indexes were made in those children who underwent biopsy of the undescended testis and its descended mate. Statistical analysis was performed using the independent Student t-test. When comparing undescended to descended testes, there was no significant difference in the fertility index of patients 1 year old or younger but fertility index differences were statistically significant in all of the other age groups. Fertility index measurements were significantly decreased from normal expected values in all age groups with unilateral cryptorchidism and in all but the 13 to 18-month-old group with bilateral cryptorchidism. The fertility index in the descended testis was similar to previously reported normal testis measurements in boys between 13 months and 6 years old. Our data suggest that potential fertility in the cryptorchid testis may be significantly impaired compared to normal testicular fertility regardless of patient age at the time of discovery of the undescended testis. The fertility index of the descended mates of unilateral undescended testes may also be somewhat impaired in certain age groups. Orchiopexy in the first year of life may be indicate to preserve available fertility potential.
We report the karyotype analysis of a congenital mesoblastic nephroma (CMN), a usually benign ren... more We report the karyotype analysis of a congenital mesoblastic nephroma (CMN), a usually benign renal tumor occurring most commonly during early infancy. The tumor was composed of interlacing bundles of spindle-shaped cells and it displayed both the classic and cellular histologic patterns. Immunoperoxidase studies showed reactivity for vimentin and actin. The tumor cell karyotype included additional chromosomes 11 and an altered chromosome 12. Trisomy or tetrasomy of chromosome 11 is present in five of six reported cases and may represent a frequent alteration in the karyotype of the CMN. Furthermore, breakpoints in the q13-15 region of chromosome 12 are commonly seen in leiomyomas, which are histologically similar to the CMN. Thus, the karyotype described here illustrates another similarity between the two tumor types.
Irresponsible testimony by medical experts is a growing problem exemplified by three particularly... more Irresponsible testimony by medical experts is a growing problem exemplified by three particularly egregious cases reported herein. The types of irresponsible testimony include the witness's absence of proper qualifications, use of unique theories of causation, use of unique or very unusual interpretations of medical findings, alleging nonexistent medical findings, flagrant misquoting of medical journals or widely used texts, making false
Cytogenetic study of a mesenchymal hamartoma of the liver detected a balanced translocation betwe... more Cytogenetic study of a mesenchymal hamartoma of the liver detected a balanced translocation between chromosomes 11 and 19 in a 6-month-old male whose constitutional karyotype was normal. The chromosome 19 breakpoint, 19q13.4, appears to be identical to one of the breakpoints identified in the only other mesenchymal hamartoma studied with cytogenetic methods.
The American Journal of Forensic Medicine and Pathology, 2003
Upper respiratory infection and pulmonary inflammation are common in sudden infant death syndrome... more Upper respiratory infection and pulmonary inflammation are common in sudden infant death syndrome, but their role in the cause of death remains controversial. Controlled studies comparing clinical upper respiratory infection and inflammation in sudden infant death syndrome with sudden infant deaths caused by accidents and inflicted injuries (controls) are unavailable. Our aim was to compare respiratory inflammation and upper respiratory infection within 48 hours of death and postmortem culture results in these two groups. A retrospective analysis of upper respiratory infection and pathologic variables in the trachea and lung of 155 infants dying of sudden infant death syndrome and 33 control infants was undertaken. Upper respiratory infection was present in 39% of sudden infant death syndrome cases and 40% of control cases. Upper respiratory infection was more likely to have occurred in association with more severe lymphocytic interstitial pneumonitis when sudden infant death syndrome cases and control cases were combined ( P=.04). Proximal and distal tracheal lymphocytic infiltration was more severe in control cases than in sudden infant death syndrome cases ( P=.01 and.01, respectively). Lymphocytic infiltrations of the bronchi, bronchioles, and pulmonary interstitium were similar between groups. Bronchial associated lymphoid tissue was more prominent in control cases ( P=.04). Cultures were positive in 80% of sudden infant death syndrome cases, 78% of which were polymicrobial. Among control cases, 89% were positive, with 94% being polymicrobial. This study confirms that microscopic inflammatory infiltrates in sudden infant death syndrome are not lethal.
Sudden unexplained death in childhood (SUDC), while rare, accounts for an important fraction of u... more Sudden unexplained death in childhood (SUDC), while rare, accounts for an important fraction of unexpected deaths in children >1 year of age. Previously we reported an association between febrile seizures, hippocampal maldevelopment, and sudden, unexpected deaths in young children (1-6 years), termed "hippocampal maldevelopment associated with sudden death (HMASD)." Here, we characterize in greater detail the hippocampal pathology in a large cohort of cases (n = 42) of this entity, and attempt to define possible new entities responsible for sudden, unexplained death in young children without HMASD/febrile seizure phenotypes. We performed comparative analysis on cases, which we classified in a cohort of 89 sudden and unexpected deaths as HMASD, explained deaths, SUDC with febrile seizure phenotype (SUDC-FS) but without hippocampal pathology, and SUDC (without hippocampal pathology or febrile seizure phenotype). The frequency of each subgroup was: HMASD 48 % (40/83); SUDC 27 % (22/83); SUDC-FS 18 % (15/83); explained 7 % (6/83). HMASD was characterized clinically by sudden, sleep-related death, term birth, and discovery in the prone position. Key morphologic features of HMASD were focal granule cell bilamination of the dentate gyrus with or without asymmetry and/or malrotation of the hippocampus, associated with significantly increased frequencies of 11 other developmental abnormalities. We identified no other distinct phenotype in the unexplained categories, except for an association of febrile seizures without hippocampal maldevelopment. HMASD is a distinct clinicopathologic entity characterized by a likely developmental failure of neuronal migration in the dentate gyrus. Future research is needed to determine the causal role of HMASD in sudden death in early childhood.
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